59761008: Glutamate formiminotransferase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Glutamate formiminotransferase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutamate formiminotransferase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Glutamate formiminotransferase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Glutamate formiminotransferase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Inherited disorder of folate metabolism\Glutamate formiminotransferase deficiency
• \Metabolic disease\Enzymopathy\Glutamate formiminotransferase deficiency
• \Congenital disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Glutamate formiminotransferase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
498531019	Deficiency of glutamate formiminotransferase	en	Synonym	Active	Case insensitive	SNOMED CT core
498532014	Deficiency of glutamate formyltransferase	en	Synonym	Active	Case insensitive	SNOMED CT core
798639019	Glutamate formiminotransferase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
99269017	Glutamate formiminotransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
99270016	FIGLUria	en	Synonym	Active	Case sensitive	SNOMED CT core
99271017	Formiminoglutamic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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